The DOI matches its Crossref record; 23 of the 23 references it cites were found in a registry or an index.
Truncation of the GABAA-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus
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Citations
Cites
Shrestha, S., & Offer, S. M. (2016) · Medical Epigenetics · doi:10.1159/000444713 · Cited by 8,914
De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy
Claes, L., Del-Favero, J., Ceulemans, B., Lagae, L., Van Broeckhoven, C., & De Jonghe, P. (2001) · The American Journal of Human Genetics · doi:10.1086/320609 · Cited by 1,292
Barnard, E. A., Skolnick, P., Olsen, R. W., Möhler, H., Sieghart, W., Biggio, G., Bræstrup, C., Bateson, A. N., & Langer, S. Z. (1998) · PubMed · Cited by 1,204
Wallace, R. H., Wang, D. W., Singh, R., Scheffer, I. E., George, A. L., Phillips, H. A., Saar, K., Reis, A., Johnson, E. W., Sutherland, G. R., et al. (1998) · Nature Genetics · doi:10.1038/1252 · Cited by 996
Self-citationMutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
Escayg, A., MacDonald, B. T., Meisler, M. H., Baulac, S., Huberfeld, G., An-Gourfinkel, I., Brice, A., LeGuern, E., Moulard, B., Chaigne, D., et al. (2000) · Nature Genetics · doi:10.1038/74159 · Cited by 996
Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures
Wallace, R. H., Marini, C., Petrou, S., Harkin, L. A., Bowser, D. N., Panchal, R. G., Williams, D. A., Sutherland, G. R., Mulley, J. C., Scheffer, I. E., et al. (2001) · Nature Genetics · doi:10.1038/ng0501-49 · Cited by 781
Self-citationFirst genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene
Baulac, S., Huberfeld, G., Gourfinkel-An, I., Mitropoulou, G., Beranger, A., Prud'homme, J.-F., Baulac, M., Brice, A., Bruzzone, R., & LeGuern, E. (2001) · Nature Genetics · doi:10.1038/ng0501-46 · Cited by 766
Scheffer, I. (1997) · Brain · doi:10.1093/brain/120.3.479 · Cited by 755
Self-citationWallace, D. C., & Melov, S. (1998) · Nature Genetics · doi:10.1038/448 · Cited by 548
Sugawara, T., Tsurubuchi, Y., Agarwala, K. L., Ito, M., Fukuma, G., Mazaki-Miyazaki, E., Nagafuji, H., Noda, M., Imoto, K., Wada, K., et al. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.111065098 · Cited by 380
Cited by
Model of autism: increased ratio of excitation/inhibition in key neural systems
Rubenstein, J. L. R., & Merzenich, M. M. (2003) · Genes, Brain and Behavior · doi:10.1034/j.1601-183x.2003.00037.x · Cited by 2,768
Guerrini, R. (2006) · The Lancet · doi:10.1016/s0140-6736(06)68182-8 · Cited by 848
Mechanisms of epileptogenesis: a convergence on neural circuit dysfunction
Goldberg, E. M., & Coulter, D. A. (2013) · Nature Reviews Neuroscience · doi:10.1038/nrn3482 · Cited by 542
Sodium channel SCN1A and epilepsy: Mutations and mechanisms
Escayg, A., & Goldin, A. L. (2010) · Epilepsia · doi:10.1111/j.1528-1167.2010.02640.x · Cited by 398
Mulley, J. C., Scheffer, I. E., Petrou, S., Dibbens, L. M., Berkovic, S. F., & Harkin, L. A. (2005) · Human Mutation · doi:10.1002/humu.20178 · Cited by 351
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Metadata
- Authors
- Harkin, L. A., Bowser, D. N., Dibbens, L. M., Singh, R., Phillips, F., Wallace, R. H., Richards, M. C., Williams, D. A., Mulley, J. C., Berkovic, S. F., Scheffer, I. E., & Petrou, S.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2002-02
- Volume
- 70
- Issue
- 2
- Pages
- 530-536
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2129724512
- Cited by
- 441
- References
- 23
- FWCI
- 19.80
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Truncation of the GABAA-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus. https://app.cochat.ai/papers/10.1086/338710
- The paper
- Harkin, L. A., Bowser, D. N., Dibbens, L. M., Singh, R., Phillips, F., Wallace, R. H., Richards, M. C., Williams, D. A., Mulley, J. C., Berkovic, S. F., Scheffer, I. E., & Petrou, S. (2002). Truncation of the GABAA-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus. The American Journal of Human Genetics. https://doi.org/10.1086/338710
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
